Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_provenance.
- NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_assertion wasGeneratedBy ECO_0000203 NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_provenance.
- NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_assertion wasDerivedFrom befree-20140225 NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_provenance.
- NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_assertion SIO_000772 23403405 NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_provenance.
- NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_assertion evidence source_evidence_literature NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_provenance.
- NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_assertion description "[The seminal observations leading to these discoveries were the following: 1) mutations in FGF23 cause ADHR by limiting cleavage of the bioactive intact molecule, at a subtilisin-like protein convertase (SPC) site, resulting in increased circulating FGF23 levels and hypophosphatemia; 2) mutations in DMP1 cause ARHR, not only by increasing serum FGF23, albeit by enhanced production and not limited cleavage, but also by limiting production of the active DMP1 component, the C-terminal fragment, resulting in dysregulated production of DKK1 and β-catenin, which contributes to impaired bone mineralization; and 3) mutations in PHEX cause XLH both by altering FGF23 proteolysis and production and causing dysregulated production of DKK1 and β-catenin, similar to abnormalities in ADHR and ARHR, but secondary to different central pathophysiological events.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP497123.RAwgc-VGZ5-NNkUi0gj1y3gG_VVcqCDSOgEZjbSgAG8JU130_provenance.